rs121909182
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.800 |
GeneticVariation |
UNIPROT |
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
|
15044640 |
2004 |
rs121909183
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.800 |
GeneticVariation |
UNIPROT |
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
|
15044640 |
2004 |
rs121909184
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.800 |
GeneticVariation |
UNIPROT |
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
|
15044640 |
2004 |
rs28936691
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.800 |
GeneticVariation |
UNIPROT |
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
|
15044640 |
2004 |
rs121909182
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909183
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909184
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28936691
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs2238464
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Birth Weight
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.
|
31043758 |
2019 |
rs45452892
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Systolic Pressure
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
|
29505158 |
2018 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
|
27374344 |
2016 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.
|
24136335 |
2014 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
|
25553246 |
2014 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).
|
25073622 |
2014 |
rs876657633
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
TGG |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
|
22866751 |
2012 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
|
22304854 |
2012 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
|
23166334 |
2012 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.
|
22800827 |
2012 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Hamman-Rich syndrome
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Structural and dynamic aspects of Ca2+ and Mg2+ binding of the regulatory domains of the Na+/Ca2+ exchanger.
|
22435821 |
2012 |
rs149989682
|
Entrez Id: |
21 |
Gene Symbol: |
ABCA3 |
ABCA3
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
A |
0.700 |
CausalMutation |
CLINVAR |
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.
|
22434821 |
2012 |